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一对智力明显不同的同卵双胞胎中脆性X染色体fra(X)(q27 - 28)的频率及复制状态。

Frequency and replication status of the fragile X, fra(X)(q27-28), in a pair of monozygotic twins of markedly differing intelligence.

作者信息

Tuckerman E, Webb T, Bundey S E

出版信息

J Med Genet. 1985 Apr;22(2):85-91. doi: 10.1136/jmg.22.2.85.

DOI:10.1136/jmg.22.2.85
PMID:4039370
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049390/
Abstract

Chromosome analysis using conventional staining, G banding, and, after BUdR incorporation, two R banding methods, one using Hoechst and one acridine orange, were performed on lymphocytes from a pair of female monozygotic twins. The culture conditions were designed to show the presence of the fragile X (q27-28) which had previously been found to be segregating in the family. One twin was of higher than normal intelligence and the other had been diagnosed as mentally retarded. The frequency of the occurrence of the early/active fragile X compared to the overall total of informative fragile X was determined using both methods described above and was also compared with previous published data in the form of a graph showing percentage of early/active fragile X against intelligence.

摘要

运用传统染色、G显带技术,以及在掺入5-溴脱氧尿苷(BUdR)后,采用两种R显带方法(一种使用 Hoechst,另一种使用吖啶橙),对一对女性同卵双胞胎的淋巴细胞进行了染色体分析。培养条件旨在显示脆性X(q27 - 28)的存在,此前已发现该脆性X在家族中呈分离状态。其中一个双胞胎智力高于正常水平,另一个被诊断为智力迟钝。使用上述两种方法确定了早期/活跃型脆性X的发生频率与信息性脆性X总数的比例,并与之前以图表形式发表的数据进行了比较,该图表展示了早期/活跃型脆性X的百分比与智力的关系。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84b8/1049390/8580687231b3/jmedgene00094-0009-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84b8/1049390/245f07bbcc18/jmedgene00094-0006-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84b8/1049390/7aac3007aee6/jmedgene00094-0006-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84b8/1049390/ca470230a0fa/jmedgene00094-0006-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84b8/1049390/78b8a8f2604e/jmedgene00094-0007-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84b8/1049390/2c48230bfc45/jmedgene00094-0007-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84b8/1049390/24799dce4dbb/jmedgene00094-0007-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84b8/1049390/0bf788890d2f/jmedgene00094-0008-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84b8/1049390/2309a582d4ae/jmedgene00094-0009-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84b8/1049390/5a57b722b9fc/jmedgene00094-0009-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84b8/1049390/8580687231b3/jmedgene00094-0009-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84b8/1049390/245f07bbcc18/jmedgene00094-0006-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84b8/1049390/7aac3007aee6/jmedgene00094-0006-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84b8/1049390/ca470230a0fa/jmedgene00094-0006-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84b8/1049390/78b8a8f2604e/jmedgene00094-0007-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84b8/1049390/2c48230bfc45/jmedgene00094-0007-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84b8/1049390/24799dce4dbb/jmedgene00094-0007-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84b8/1049390/0bf788890d2f/jmedgene00094-0008-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84b8/1049390/2309a582d4ae/jmedgene00094-0009-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84b8/1049390/5a57b722b9fc/jmedgene00094-0009-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84b8/1049390/8580687231b3/jmedgene00094-0009-c.jpg

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1
Frequency and replication status of the fragile X, fra(X)(q27-28), in a pair of monozygotic twins of markedly differing intelligence.一对智力明显不同的同卵双胞胎中脆性X染色体fra(X)(q27 - 28)的频率及复制状态。
J Med Genet. 1985 Apr;22(2):85-91. doi: 10.1136/jmg.22.2.85.
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引用本文的文献

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Neurobehavioral effects of the fragile X premutation in adult women: a controlled study.成年女性脆性X前突变的神经行为效应:一项对照研究。
Am J Hum Genet. 1993 May;52(5):884-94.
3
Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome.对双胞胎的X染色体失活和同二倍体的研究提供了进一步的证据,表明X染色体与雷特综合征无关。

本文引用的文献

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X-linked mental retardation: a study of 7 families.X连锁智力迟钝:对7个家族的研究
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2
Replication pattern in XXY cells with fra(X).具有脆性X染色体的XXY细胞中的复制模式。
Hum Genet. 1982;60(3):278-80. doi: 10.1007/BF00303019.
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Replication status of the fragile X chromosome, fra(X)(q27), in three heterozygous females.三名杂合子女性中脆性X染色体fra(X)(q27)的复制状态。
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Replication status of fragile X(q27.3) in 13 female heterozygotes.13名女性杂合子中脆性X(q27.3)的复制状态。
J Med Genet. 1986 Oct;23(5):407-10. doi: 10.1136/jmg.23.5.407.
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Proposed mechanism of inheritance and expression of the human fragile-X syndrome of mental retardation.人类脆性X智力障碍综合征的遗传与表达的推测机制。
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Frequency of the fragile X syndrome in institutionalized mentally retarded females in Japan.日本收容机构中智力迟钝女性的脆性X综合征发病率
Hum Genet. 1987 Aug;76(4):344-7. doi: 10.1007/BF00272442.
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Ethics of predictive testing for Huntington's chorea.亨廷顿舞蹈症预测性检测的伦理学问题
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Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect.脆性X突变杂合子中的智力迟钝:支持X染色体失活依赖性效应的证据。
Am J Hum Genet. 1990 Apr;46(4):738-43.
10
Fragile Xq27.3 in female heterozygotes for the Martin-Bell syndrome.患有马丁-贝尔综合征的女性杂合子中的脆性Xq27.3
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Hum Genet. 1982;62(3):282-4. doi: 10.1007/BF00333538.
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Apparent homozygosity for the fragile site at Xq28 in a normal female.一名正常女性在Xq28处脆性位点表现为纯合性。
Hum Genet. 1982;61(1):60-2. doi: 10.1007/BF00291334.
5
Fragile site Xq27 and mental retardation. Clinical and cytogenetic manifestation in heterozygotes and hemizygotes of five kindreds.脆性位点Xq27与智力迟钝。五个家系的杂合子和半合子的临床和细胞遗传学表现
Hum Genet. 1982;60(4):322-7. doi: 10.1007/BF00569212.
6
Fragile (X) X-linked mental retardation I: relationship between age and intelligence and the frequency of expression of fragil (X)(q28).脆性X连锁智力低下I:年龄与智力的关系以及脆性X(q28)的表达频率
Am J Med Genet. 1983 Apr;14(4):699-712. doi: 10.1002/ajmg.1320140412.
7
The marker (X) syndrome: a cytogenetic and genetic analysis.标记(X)综合征:细胞遗传学与遗传学分析
Ann Hum Genet. 1984 Jan;48(1):21-37. doi: 10.1111/j.1469-1809.1984.tb00830.x.
8
The fragile X syndrome I: familial variation in the proportion of lymphocytes with the fragile site in males.脆性X综合征I:男性淋巴细胞中具有脆性位点的比例的家族性差异。
Am J Med Genet. 1984 Jan;17(1):241-52. doi: 10.1002/ajmg.1320170115.
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Four cases of trisomy 18 syndrome with limb reduction malformations.4例18三体综合征伴肢体短小畸形。
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Am J Hum Genet. 1982 Mar;34(2):286-93.